Early Detection and Follow-Up of Patients With Fabry's Disease

NCT04847713 | Unknown

• 1 other identifier: CouFabry
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

This research project will serve on the enhancement of early detection, diagnosis and follow-up of patients with Fabry Disease, through new biomarkers identification. This could have straight clinical impact on:

1. 1.Early diagnosis, follow-up, and prediction of treatment response.
2. 2.Suggestion about the optimal time to start treatment.
3. 3.The data obtained will help to deepen our knowledge of the correlation among Lyso-Gb3, genotype and phenotype.
4. 4.Better understanding of the pathophysiology of FD. To sum up, the results of the study will make a significant contribution to scientific knowledge providing new evidence with an immediate clinical application in FD patients.

Conditions

Fabry's Disease

Outcome Measures

Primary Outcomes (3)

• Qualitative proteomic analysis

  will identifiy all the proteins expressed in all samples. Functional and quantitative analysis in each group will be performed by FunRich software, String, Reactome and a label free approach (SWATH-MS; Sequential Window Acquisition of all Theoretical Mass Spectra). Information about the change of each protein will be made by MARKERVIEW software

  3 months

• Transcriptomic study

  includes sequencing of RNA libraries. FASTQ files will be analyzed by quantification of transcript expression using Salmon algorithm; correlation analysis and number of reads in each group with DESeq2 program obtaining PCA plot, p-value histogram, MA plot, Volcano Plot and correlation heatmap.

  3 months

• Integrative analysis of Omics

  will only considere transcripts relatively high-correlated or anti-correlated with proteins of interest in the data. Global Spearman's correlations will be calculated between proteomic and transcript in each group

  6 months

Study Arms (2)

Fabry's disease

children and adults male or female between 6 and 70 years old, patients with diagnosis of FD, treated and non-treated

Other: extraction of blood samples

Healthy controls

age and sex-matched group of healthy subjects with a negative family history for lysosomal storage disorders and no clinical signs of FD.

Other: extraction of blood samples

Interventions

extraction of blood samples OTHER

Two blood samples (3.5 ml each) will be collected directly into purple K2-EDTA tubes and stored at 4°C for up to 24 hours for analysis

Fabry's disease; Healthy controls

Eligibility Criteria

• Age: 6 Years - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Study Population The study will obtain biological samples (one sample of blood plasma per participant) from patients with diagnosis of FD, treated and non-treated, recruited through the Association of Lysosomal Patients-MPS Spain and Portugal and clinicians from Expert Centres in Spain and Portugal in this disorder. An age and sex-matched group of healthy subjects will serve as controls. Controls will be identified from volunteers and nonmedical staff at the Clinical Hospital University of Santiago. Controls will be required to have a negative family history for lysosomal storage disorders and no clinical signs of FD. The same procedures will be done both control and FD patients.

You may qualify if:

• Age and gender: children and adults male or female between 6 and 70 years old.
• Patients or legal representative will be able to give written informed consent. Parent(s) or guardian(s), for subject under 18 years of age, must be willing and able to provide written, signed informed consent after the nature of the study has been explained and prior to performance of any research-related procedure.
• Patients with diagnosis biochemically confirmed by a decrease in the enzymatic activity of alpha-galactosidase or genetically by the presence of a pathogenic variant in GLA
• Controls: male or female subjects between 6 and 70 years old must be unaffected with Fabry Disease, and considered healthy with no previous history of diabetes mellitus, atherosclerotic vasculopathy or other inflammatory disease.

You may not qualify if:

• Subject with inconclusive genetic diagnosis (i.e. carriers of variants of unknown significance (VUS) or variants with conflicting interpretations of pathogenicity).
• Subject with any medical or psychological disorder that, in the investigator's opinion, may interfere with the patient's ability to give his/her informed consent.
• Subject or legal representative unable to or unwilling to give informed consent.
• Subject participating in a study with an investigational drug within 3 months before consent.

Sponsors & Collaborators

• Hospital Clinico Universitario de Santiago: lead
• Alvaro Hermida (Co-IP): collaborator
• Susana Belen Bravo: collaborator
• Maria Teresa Cardoso: collaborator
• Cristobal Colon Mejeras: collaborator
• Maria Jose de Castro: collaborator
• Emiliano Gonzalez-Vioque: collaborator
• Elisa Leal Teles: collaborator
• Saida Ortolano: collaborator
• Jose Victor Alvarez: collaborator

Study Sites (1)

University Hospital of Santiago de Compostela

Santiago de Compostela, A Coruña, 15706, Spain

RECRUITING

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Maria Luz Couce-Pico, MD

  University Hospital of Santiago de Compostela

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Maria Luz Couce-Pico, MD

CONTACT

+34 981 950 151; maria.luz.couce.pico@sergas.es

Orlando Fernandez-Lago

CONTACT

+34 981 955 498; orlando.fernandez.lago@sergas.es

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Head of neonatal department

Study Record Dates

• First Submitted: March 26, 2021
• First Posted: April 19, 2021
• Study Start: January 1, 2021
• Primary Completion: April 1, 2021
• Study Completion: December 1, 2022
• Last Updated: April 19, 2021

Record last verified: 2021-04

Data Sharing

• IPD Sharing: Will not share

Locations

ES (1)